Experiments

Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).

• Identification of common genetic variation that modulates alternative splicing.

  PMID 17571926 · PMC1904363 · PLoS genetics · 2007 · 7 claims · 8 setups

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  Common SNPs located close to intron-exon boundaries are associated with and causally modulate alternative splicing patterns in human genes

  ceph lcls skipped additional rt-pcr snp resequencing

• Development of an integrated genome informatics, data management and workflow infrastructure: a toolbox for the study of complex disease genetics.

  PMID 15601538 · PMC3525068 · Human genomics · 2004 · 8 claims · 8 setups

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  An integrated system combining Ensembl, ACeDB, Gbrowse and custom relational databases provides a scalable genome informatics and workflow infrastructure for complex disease gene discovery.

  pcr candidate embl clinical snp manual homology

• V-MitoSNP: visualization of human mitochondrial SNPs.

  PMID 16907992 · PMC1564046 · BMC bioinformatics · 2006 · 6 claims · 4 setups

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  V-MitoSNP integrates RFLP genotyping information with mitochondria-related cancer/disease data in a user-friendly, interactive, color-coded visual web interface

  blood blood-derived mtdna standard agarose rflp

• Single-track sequencing for genotyping of multiple SNPs in the N-acetyltransferase 1 (NAT1) gene.

  PMID 15563733 · PMC544357 · BMC biotechnology · 2004 · 8 claims · 6 setups

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  A single-track sequencing (SSR) strategy on one PCR product can simultaneously address 24 genetic variants in the NAT1 gene using paired terminator tracks (A/G for coding region, A/T for 3' flanking region)

  genomic nat1 same pcr single-track single

• In silico and in vitro comparative analysis to select, validate and test SNPs for human identification.

  PMID 18076761 · PMC2222643 · BMC genomics · 2007 · 8 claims · 7 setups

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  A panel of 24 SNPs was selected and validated for human identification using 1,040 unrelated samples from three populations (Italian, Benin Gulf, Mongolian)

  genomic genome pan blood snp sequence cross-species

• LRRK2 gene G2019S mutation and SNPs [haplotypes] in subtypes of Parkinson's disease.

  PMID 18752982 · PMC2761091 · Parkinsonism & related disorders · 2009 · 8 claims · 4 setups

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  LRRK2 G2019S mutation frequency was 1.56% in total PD, higher in familial PD (3.5%) than sporadic PD (0.3%)

  genomic genotype mutation taqman association

• Association of CFH, LOC387715, and HTRA1 polymorphisms with exudative age-related macular degeneration in a northern Chinese population.

  PMID 18682812 · PMC2493029 · Molecular vision · 2008 · 7 claims · 3 setups

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  CFH Y402H (rs1061170) variant is not associated with exudative AMD in this northern Chinese cohort

  peripheral subset same pcr direct statistical

• Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.

  PMID 11454237 · PMC34549 · BMC genetics · 2001 · 6 claims · 4 setups

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  The desmuslin (DMN) gene was localized to chromosome 15q26.3 via electronic screening of the human genome database, and its 5-exon genomic organization was determined.

  genomic electronic pcr pcr-restriction

• Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.

  PMID 18334955 · PMC2268852 · Molecular vision · 2008 · 7 claims · 4 setups

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  MFRP mutations were previously reported to cause nanophthalmos and a distinct microphthalmos/retinitis pigmentosa/foveoschisis syndrome, motivating it as a candidate gene for axial length regulation

  genomic multiplex direct pcr taqman

• Mitotic checkpoint protein hsMAD2 as a marker predicting liver metastasis of human gastric cancers.

  PMID 11572763 · PMC5926839 · Japanese journal of cancer research : Gann · 2001 · 8 claims · 4 setups

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  No mutations were found in the coding sequence of the hsMAD2 gene in 32 primary gastric cancers

  gastric cancer formalin-fixed near-diploid pcr semi-quantitative immunohistochemistry

• Comprehensive search for intra- and inter-specific sequence polymorphisms among coding envelope genes of retroviral origin found in the human genome: genes and pseudogenes.

  PMID 16150157 · PMC1236922 · BMC genomics · 2005 · 8 claims · 5 setups

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  HERV-W (envW) and HERV-FRD (envFRD) envelope genes, both specifically expressed in placenta, show strong sequence conservation with only two nonsynonymous SNPs identified across 91 individuals

  genomic genotype 293t pcr-amplified pcr haplotype cell-cell

• Competitive enzymatic reaction to control allele-specific extensions.

  PMID 15767273 · PMC1065263 · Nucleic acids research · 2005 · 6 claims · 7 setups

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  Protease-mediated allele-specific extension (PrASE) uses competition between polymerase activity and Proteinase K-mediated polymerase degradation to allow extension of perfectly matched primers while eliminating slower mismatched primer extension.

  genomic immobilized four individuals multiplex protease-mediated effect

• Single nucleotide polymorphisms of the APC gene and colorectal cancer risk: a case-control study in Taiwan.

  PMID 16569251 · PMC1488868 · BMC cancer · 2006 · 7 claims · 4 setups

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  Three novel APC germline mutations were identified in Taiwanese subjects: a frameshift deletion at codon 460 (g.1378delG), and two missense substitutions p.V1125A and p.S1126R

  genomic taiwanese dhplc pcr sanger

• In silico whole-genome screening for cancer-related single-nucleotide polymorphisms located in human mRNA untranslated regions.

  PMID 17201911 · PMC1774567 · BMC genomics · 2007 · 8 claims · 5 setups

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  A computational EST-based pipeline can identify UTR-SNPs that are statistically over-represented in cancerous versus normal tissue libraries

  est acute 100-nt whole-genome est-based pcr-based secondary

• Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypes.

  PMID 19859740 · PMC2939908 · Human genetics · 2010 · 7 claims · 7 setups

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  NOS2 promoter haplotypes are not consistently associated with malaria severity or malarial anemia across three independent Tanzanian study populations

  tanzanian a549 muheza-tanga sscp pcr restriction

• Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene.

  PMID 16670016 · PMC1513378 · Lipids in health and disease · 2006 · 8 claims · 6 setups

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  A -987C>T polymorphism located 4bp from the 3' end of the MseI RFLP forward primer causes allelic drop-out, producing incorrect -1131T>C genotypes.

  asian random subjects unrelated arms-pcr msei sanger

• A high-throughput method for quantifying alleles and haplotypes of the malaria vaccine candidate Plasmodium falciparum merozoite surface protein-1 19 kDa.

  PMID 16626494 · PMC1459863 · Malaria journal · 2006 · 8 claims · 5 setups

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  Pyrosequencing, after adjustment to a standard curve, provides accurate and precise estimates of allele frequencies in mixed MSP-1_19 infections

  falciparum cloned pyrosequencing pcr

• CARAT: a novel method for allelic detection of DNA copy number changes using high density oligonucleotide arrays.

  PMID 16504045 · PMC1402331 · BMC bioinformatics · 2006 · 8 claims · 5 setups

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  CARAT is a novel algorithm that uses SNP probe intensity and genotype-based allelic dosage response in a regression framework to estimate allele-specific copy number genome-wide.

  normal genomic sk-br-3 cancer snp quantitative allele-specific

• Alternative splicing and bioinformatic analysis of human U12-type introns.

  PMID 17332017 · PMC1874599 · Nucleic acids research · 2007 · 8 claims · 6 setups

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  The long, evolutionarily conserved polypyrimidine (Py) tract of the JNK2 U2-U12 hybrid intron provides the signal for default inclusion of the downstream alternative exon 6b in non-neuronal cells

  hela hek293 genome jnk2 rt-pcr minigene bioinformatic

• Evaluation of human gene variant detection in amplicon pools by the GS-FLX parallel Pyrosequencer.

  PMID 18842124 · PMC2569949 · BMC genomics · 2008 · 7 claims · 7 setups

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  GS-FLX pyrosequencing of pooled amplicons detects sequence variants with high specificity (99.95%) and no false negatives at ≥30× coverage

  pools pcr genomic gs-flx massively sanger pcr